Vacuolar Protein Sorting 13, Yeast, Homolog of, B

Alternative Names

  • VPS13B
  • COH1 Gene
  • COH1
  • KIAA0532
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OMIM Number

607817

NCBI Gene ID

157680

Uniprot ID

Q7Z7G8

Length

864,516 bases

No. of Exons

62

No. of isoforms

6

Protein Name

Vacuolar protein sorting-associated protein 13B

Molecular Mass

448664 Da

Amino Acid Count

4022

Genomic Location

chr8:99,013,071-99,877,586

Gene Map Locus
8q22-q23

Description

COH1 is a large gene whose function is not clearly understood.  The protein coded by this gene has a complex domain structure, including 10 predicted transmembrane domains, a potential vacuolar targeting motif, endoplasmic reticulum retention signal in the C terminus, and 2 peroxisomal matrix protein targeting signal-2 (PTS2) consensus sequences.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_017890.4:c.11785C>GLebanonchr8:99871662Uncertain SignificanceCohen SyndromeNG_007098.2:g.863397C>G; NM_017890.4:c.11785C>G; NP_060360.3:p.Gln3929Glu545957190198309
NM_017890.4:c.1219C>TSaudi ArabiaChr8:99134644PathogenicCohen SyndromeNG_007098.2:g.126379C>T ; NM_017890.4:c.1219C>T ; NP_060360.3:p.Gln407Ter 38683407056645
NM_017890.4:c.1225G>TPalestineNC_000008.11:g.99134650G>TLikely Pathogenic,PathogenicCohen SyndromeNG_007098.2:g.126385G>T; NM_017890.4:c.1225G>T; NP_060360.3:p.Glu409Ter38683407156646
NM_017890.4:c.6530_6732delSyriaNC_000008.11:g.99717171_99717373delCohen SyndromeNG_007098.2:g.708906_709108del; NM_017890.4:c.6530_6732del ; NP_060360.3:p.?
NM_017890.4:c.7934G>AOmanChr8:99784394PathogenicCohen SyndromeNG_007098.2:g.776129G>A ; NM_017890.4:c.7934G>A; NP_060360.3:p.Gly2645Asp 1200741532824
NM_017890.4:c.9406-1G>TLebanonc.9406-1G>TPathogenicRetinopathy, Pigmentary, and Mental Retardation; Cohen SyndromeNG_007098.2:g.824103G>T ; NM_017890.4:c.9406-1G>T 386834119189197
NM_152564.4:c.11251delLebanonchr8:99868324PathogenicCohen SyndromeNG_007098.2:g.860059del; NM_152564.4:c.11251del; NP_689777.3:p.asn3751Thrfs*
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